Research Article

Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

Table 1

Phenotype traits of our patients with a 4p deletion of ~6.5 Mb compared with the frequencies of the main clinical features associated with 4p deletions of an average size between 5 and 18 Mb, from Zollino et al. [5].

II-2II-4 %

Age at examination (years. Months)9.97.5
Preterm delivery (<38 weeks)++
Mild/moderate mental retardation24
Severe mental retardation ++80
Prenatal growth delay ++84
Postnatal growth delay ++91
Microcephaly ++95
Typical facial dysmorphisms++100
 Cranial asymmetry++
 Round-broad face++
 High-diffuse frontal hair line++
 High forehead++
 Prominent glabella++
 Sparse eyebrows++
 Long eyelashes++
 Downslanting palpebral fissures+
Ocular coloboma30
 Broad nasal bridge++
 Beaked nose ++
 Short nasal wings++
 Short philtrum++
 Prominent philtrum columns++
 Downturned corners of mouth++
Cleft lip/palate+a+a25
 Prominent ears++
 Low set and malformed ears++
 Brain anomalies+b+b
 Hearing loss++
Congenital heart defects+c+d52
Renal abnormalities+e37
Skeletal anomalies +f+f37
 Sacral dimple++

Clinical findings: +: present; −: absent; R: right; L: left; NA: not applicable.
aCleft palate.
bCortical/subcortical atrophy, enlargement of lateral ventricles, and septum pellucidum agenesis.
cVentricular septal defect and pulmonary stenosis.
dAtrial septal defect.
eMalrotation of left kidney.
fHip dislocation.